A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608963



Internal ID6995887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50378221..50429272hg38UCSC Ensembl
Innerchr6:50378721..50428772hg38UCSC Ensembl
Outerchr6:50377221..50430272hg38UCSC Ensembl
chr6:50345934..50396985hg19UCSC Ensembl
Innerchr6:50346434..50396485hg19UCSC Ensembl
Outerchr6:50344934..50397985hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3851052
hg1951052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12345097
SamplesNA12827
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608963
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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