A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12540711



Internal ID5023158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126726836..126732735hg38UCSC Ensembl
Innerchr6:126726847..126732724hg38UCSC Ensembl
Outerchr6:126726825..126732746hg38UCSC Ensembl
chr6:127047981..127053880hg19UCSC Ensembl
Innerchr6:127047992..127053869hg19UCSC Ensembl
Outerchr6:127047970..127053891hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610714
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12540711
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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