A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12312607



Internal ID4245089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34124941..34126848hg38UCSC Ensembl
Innerchr6:34124941..34126848hg38UCSC Ensembl
Outerchr6:34124836..34127003hg38UCSC Ensembl
chr6:34092718..34094625hg19UCSC Ensembl
Innerchr6:34092718..34094625hg19UCSC Ensembl
Outerchr6:34092613..34094780hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381908
hg191908
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608653
Supporting Variants
SamplesHG03815
Known GenesGRM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12312607
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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