A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756407



Internal ID2758223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43438723..43515026hg38UCSC Ensembl
chr7:43478322..43554625hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3876304
hg1976304
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612994
Supporting Variants
SamplesNA19431
Known GenesHECW1, LOC100506895
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756407
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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