Variant Details

Variant: esv3307207

Internal ID

14807469

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:81846358..81846359	hg38	UCSC Ensembl
Inner	chr1:81846341..81846376	hg38	UCSC Ensembl
Outer	chr1:81846340..81846377	hg38	UCSC Ensembl
	chr1:82312043..82312044	hg19	UCSC Ensembl
Inner	chr1:82312026..82312061	hg19	UCSC Ensembl
Outer	chr1:82312025..82312062	hg19	UCSC Ensembl
	chr1:82084631..82084632	hg18	UCSC Ensembl
Inner	chr1:82084649..82084614	hg18	UCSC Ensembl
Outer	chr1:82084613..82084650	hg18	UCSC Ensembl

Cytoband

1p31.1

Allele length

Assembly	Allele length
hg38	299
hg19	299
hg18	299

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7800028, essv7835458, essv7806433, essv7814904, essv7832230, essv7792308, essv7775302, essv7813225, essv7786306, essv7776505, essv7773840, essv7832726, essv7797793, essv7776356, essv7771503, essv7804825, essv7794155, essv7785380, essv7802574, essv7812232, essv7809490, essv7799422, essv7781397, essv7799886, essv7777674, essv7801440, essv7805689, essv7828462, essv7797165, essv7784051, essv7803129, essv7781057, essv7790859, essv7831608, essv7825630, essv7805481, essv7826088, essv7792013, essv7807138, essv7834163, essv7821853, essv7772354

Samples

NA18502, NA12717, NA11829, NA18861, NA18508, NA10851, NA12414, NA11931, NA12045, NA18504, NA18870, NA07357, NA07346, NA18519, NA18916, NA19138, NA18498, NA12761, NA12156, NA19239, NA11831, NA12003, NA12234, NA19114, NA11840, NA18912, NA19099, NA19257, NA12144, NA18858, NA11881, NA19240, NA07051, NA07037, NA18501, NA12749, NA19093, NA19129, NA12006, NA07000, NA12154, NA12776

Known Genes

LPHN2

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3307207

Frequency

Sample Size	185
Observed Gain	42
Observed Loss	0
Observed Complex	0
Frequency	n/a