A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612996



Internal ID6653208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43537785..43656356hg38UCSC Ensembl
chr7:43577384..43695955hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38118572
hg19118572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12756429
SamplesNA19376
Known GenesCOA1, HECW1, STK17A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612996
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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