A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12720501



Internal ID2722317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31646828..31721794hg38UCSC Ensembl
chr7:31686442..31761408hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3874967
hg1974967
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612724
Supporting Variants
SamplesHG00457
Known GenesCCDC129, PPP1R17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12720501
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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