A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12710583



Internal ID2712399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26301213..26309862hg38UCSC Ensembl
chr7:26340833..26349482hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg388650
hg198650
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612634
Supporting Variants
SamplesHG01948
Known GenesSNX10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12710583
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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