Variant Details

Variant: esv3306995

Internal ID

15153943

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:77168627..77168628	hg38	UCSC Ensembl
Inner	chr1:77168610..77168645	hg38	UCSC Ensembl
Outer	chr1:77168609..77168646	hg38	UCSC Ensembl
	chr1:77634312..77634313	hg19	UCSC Ensembl
Inner	chr1:77634295..77634330	hg19	UCSC Ensembl
Outer	chr1:77634294..77634331	hg19	UCSC Ensembl
	chr1:77406900..77406901	hg18	UCSC Ensembl
Inner	chr1:77406918..77406883	hg18	UCSC Ensembl
Outer	chr1:77406882..77406919	hg18	UCSC Ensembl

Cytoband

1p31.1

Allele length

Assembly	Allele length
hg38	262
hg19	262
hg18	262

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7812536, essv7832622, essv7829774, essv7826067, essv7791346, essv7789717, essv7797125, essv7784258, essv7807011, essv7824968, essv7815000, essv7805558, essv7817342, essv7804735, essv7828338, essv7831884, essv7778606, essv7821101, essv7779606, essv7836374, essv7803049, essv7823283, essv7802083, essv7781326, essv7812284, essv7811269, essv7814563, essv7819468, essv7787372, essv7793268, essv7795216, essv7799670, essv7792138, essv7815357, essv7835577, essv7815862, essv7802680, essv7806348, essv7818351, essv7798759

Samples

NA18502, NA18508, NA18507, NA18603, NA12045, NA18504, NA19190, NA18870, NA18510, NA18519, NA18489, NA18558, NA19138, NA12761, NA19238, NA19172, NA19239, NA18638, NA19210, NA18871, NA12234, NA18907, NA18499, NA18856, NA12249, NA18853, NA18523, NA18570, NA18858, NA19108, NA19147, NA18517, NA07037, NA19143, NA18501, NA19093, NA19102, NA18505, NA18522, NA12776

Known Genes

PIGK

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3306995

Frequency

Sample Size	185
Observed Gain	40
Observed Loss	0
Observed Complex	0
Frequency	n/a