A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586213



Internal ID6973733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61205573..61208598hg38UCSC Ensembl
Innerchr1:61205594..61208577hg38UCSC Ensembl
Outerchr1:61205552..61208619hg38UCSC Ensembl
chr1:61671245..61674270hg19UCSC Ensembl
Innerchr1:61671266..61674249hg19UCSC Ensembl
Outerchr1:61671224..61674291hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383026
hg193026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9946050
SamplesNA19189
Known GenesNFIA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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