A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629000



Internal ID7015822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30056106..30062074hg38UCSC Ensembl
Innerchr12:30056106..30062074hg38UCSC Ensembl
Outerchr12:30055896..30062321hg38UCSC Ensembl
chr12:30209039..30215007hg19UCSC Ensembl
Innerchr12:30209039..30215007hg19UCSC Ensembl
Outerchr12:30208829..30215254hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg385969
hg195969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14423981, essv14423984, essv14423982, essv14423978, essv14423983, essv14423980, essv14423979
SamplesNA18979, HG00097, HG02087, NA19088, NA19079, NA18987, NA18984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629000
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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