A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12984820



Internal ID2986636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140536831..140539090hg38UCSC Ensembl
Innerchr7:140536831..140539090hg38UCSC Ensembl
Outerchr7:140536530..140539386hg38UCSC Ensembl
chr7:140236631..140238890hg19UCSC Ensembl
Innerchr7:140236631..140238890hg19UCSC Ensembl
Outerchr7:140236330..140239186hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382260
hg192260
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615238
Supporting Variants
SamplesNA19449
Known GenesDENND2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12984820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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