A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587221



Internal ID6627528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112835765..112836719hg38UCSC Ensembl
Innerchr1:112835772..112836712hg38UCSC Ensembl
Outerchr1:112835758..112836726hg38UCSC Ensembl
chr1:113378387..113379341hg19UCSC Ensembl
Innerchr1:113378394..113379334hg19UCSC Ensembl
Outerchr1:113378380..113379348hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38955
hg19955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10076666, essv10076664, essv10076663, essv10076667, essv10076665, essv10076668
SamplesHG01506, NA20877, NA20586, NA20819, HG01121, HG01119
Known GenesLOC100996702
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587221
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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