A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12439723



Internal ID2930832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:77495269..77501102hg38UCSC Ensembl
Innerchr6:77495269..77501102hg38UCSC Ensembl
Outerchr6:77495090..77501288hg38UCSC Ensembl
chr6:78204986..78210819hg19UCSC Ensembl
Innerchr6:78204986..78210819hg19UCSC Ensembl
Outerchr6:78204807..78211005hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg385834
hg195834
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609633
Supporting Variants
SamplesHG02589
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12439723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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