A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10274480



Internal ID276296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206867210..206871906hg38UCSC Ensembl
Innerchr1:206867210..206871906hg38UCSC Ensembl
Outerchr1:206866858..206872154hg38UCSC Ensembl
chr1:207040555..207045251hg19UCSC Ensembl
Innerchr1:207040555..207045251hg19UCSC Ensembl
Outerchr1:207040203..207045499hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384697
hg194697
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588662
Supporting Variants
SamplesHG02977
Known GenesIL20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10274480
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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