A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12672091



Internal ID2673907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6015386..6020307hg38UCSC Ensembl
chr7:6055017..6059938hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg384922
hg194922
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612009
Supporting Variants
SamplesHG01515
Known GenesAIMP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12672091
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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