A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9910302



Internal ID1877872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37453303..37462165hg38UCSC Ensembl
Innerchr1:37453303..37462165hg38UCSC Ensembl
Outerchr1:37453192..37462291hg38UCSC Ensembl
chr1:37918904..37927766hg19UCSC Ensembl
Innerchr1:37918904..37927766hg19UCSC Ensembl
Outerchr1:37918793..37927892hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg388863
hg198863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585752
Supporting Variants
SamplesHG01771
Known GenesLINC01137
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9910302
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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