A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12554761



Internal ID2556577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132754654..132762349hg38UCSC Ensembl
Innerchr6:132754654..132762349hg38UCSC Ensembl
Outerchr6:132754407..132762499hg38UCSC Ensembl
chr6:133075793..133083488hg19UCSC Ensembl
Innerchr6:133075793..133083488hg19UCSC Ensembl
Outerchr6:133075546..133083638hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg387696
hg197696
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610844
Supporting Variants
SamplesHG03786
Known GenesVNN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12554761
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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