A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12761047



Internal ID2762863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47596195..48032523hg38UCSC Ensembl
chr7:47635793..48072120hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38436329
hg19436328
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613065
Supporting Variants
SamplesHG04153
Known GenesC7orf65, C7orf69, HUS1, LINC00525, LOC101929086, PKD1L1, SUN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12761047
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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