A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756405



Internal ID2758221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43438543..43609526hg38UCSC Ensembl
chr7:43478142..43649125hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38170984
hg19170984
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612993
Supporting Variants
SamplesNA19376
Known GenesHECW1, LOC100506895, STK17A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756405
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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