A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12254285



Internal ID2256101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31193903..31199261hg38UCSC Ensembl
Innerchr6:31193961..31199204hg38UCSC Ensembl
Outerchr6:31193846..31199319hg38UCSC Ensembl
chr6:31161680..31167038hg19UCSC Ensembl
Innerchr6:31161738..31166981hg19UCSC Ensembl
Outerchr6:31161623..31167096hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg385359
hg195359
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608540
Supporting Variants
SamplesNA20527
Known GenesHCG27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12254285
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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