Variant Details

Variant: esv3303346

Internal ID

14803608

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:107599843..107599844	hg38	UCSC Ensembl
Inner	chr1:107599827..107599860	hg38	UCSC Ensembl
Outer	chr1:107599826..107599861	hg38	UCSC Ensembl
	chr1:108142465..108142466	hg19	UCSC Ensembl
Inner	chr1:108142449..108142482	hg19	UCSC Ensembl
Outer	chr1:108142448..108142483	hg19	UCSC Ensembl
	chr1:107943988..107943989	hg18	UCSC Ensembl
Inner	chr1:107944005..107943972	hg18	UCSC Ensembl
Outer	chr1:107943971..107944006	hg18	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	286
hg19	286
hg18	286

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7817013, essv7787859, essv7833483, essv7813463, essv7797627, essv7824027, essv7830442, essv7813823, essv7780901, essv7801895, essv7772251, essv7786195, essv7774484, essv7827229, essv7829271, essv7828547, essv7776400, essv7812030, essv7796353, essv7785478, essv7800347, essv7782050, essv7790602, essv7779476, essv7774940, essv7802580, essv7773957, essv7807547, essv7775755, essv7785851, essv7815294, essv7811793, essv7771170, essv7806111, essv7804587, essv7819270, essv7832720, essv7777473, essv7776588, essv7835062, essv7793067, essv7781916, essv7794109, essv7798755, essv7831805, essv7784487, essv7828779, essv7819487, essv7823449, essv7788636, essv7835961, essv7810242, essv7800719, essv7771904, essv7778482, essv7816850, essv7821121, essv7796978, essv7825106, essv7811234, essv7834093, essv7810967, essv7825412, essv7801184, essv7786947, essv7831337, essv7828075, essv7777823, essv7792683, essv7796696, essv7792074, essv7784575, essv7782699

Samples

NA19141, NA12717, NA11830, NA18947, NA18861, NA10851, NA18561, NA11931, NA18603, NA12045, NA12004, NA18504, NA18870, NA12750, NA07357, NA18563, NA18944, NA18940, NA18550, NA18519, NA18489, NA18558, NA18916, NA11992, NA11918, NA07347, NA18582, NA19138, NA18964, NA18949, NA12156, NA19238, NA12044, NA11994, NA19172, NA18973, NA11831, NA10847, NA18956, NA18871, NA12234, NA18907, NA18537, NA19114, NA11894, NA11840, NA12249, NA12892, NA18555, NA12144, NA18523, NA18570, NA18576, NA12043, NA18542, NA12716, NA11881, NA19147, NA19240, NA12873, NA07051, NA18943, NA06986, NA18501, NA12749, NA18609, NA19102, NA18505, NA07000, NA18522, NA12154, NA18562, NA18965

Known Genes

VAV3

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3303346

Frequency

Sample Size	185
Observed Gain	73
Observed Loss	0
Observed Complex	0
Frequency	n/a