A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12656647



Internal ID2658463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:136433..405502hg38UCSC Ensembl
Innerchr7:136583..405352hg38UCSC Ensembl
Outerchr7:136283..405652hg38UCSC Ensembl
chr7:136433..445468hg19UCSC Ensembl
Innerchr7:136583..445318hg19UCSC Ensembl
Outerchr7:136283..445618hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38269070
hg19309036
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611754
Supporting Variants
SamplesHG01797
Known GenesFAM20C, LOC100288524, LOC100507642, LOC442497
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12656647
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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