A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588816



Internal ID6629107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215684797..215689138hg38UCSC Ensembl
Innerchr1:215684797..215689138hg38UCSC Ensembl
Outerchr1:215684496..215689428hg38UCSC Ensembl
chr1:215858139..215862480hg19UCSC Ensembl
Innerchr1:215858139..215862480hg19UCSC Ensembl
Outerchr1:215857838..215862770hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384342
hg194342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10293086, essv10293092, essv10293091, essv10293085, essv10293090, essv10293088, essv10293089, essv10293093, essv10293094, essv10293095, essv10293087
SamplesHG00251, NA20795, NA20759, HG00236, NA20764, HG00264, HG00349, HG00280, HG00343, HG01437, NA19676
Known GenesUSH2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588816
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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