A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615236



Internal ID6655435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140523809..140525101hg38UCSC Ensembl
Innerchr7:140523829..140525082hg38UCSC Ensembl
Outerchr7:140523790..140525121hg38UCSC Ensembl
chr7:140223609..140224901hg19UCSC Ensembl
Innerchr7:140223629..140224882hg19UCSC Ensembl
Outerchr7:140223590..140224921hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381293
hg191293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12984752, essv12984750, essv12984751, essv12984749
SamplesHG03548, HG02541, HG02464, NA19204
Known GenesDENND2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615236
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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