A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12657592



Internal ID2659408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:305406..384519hg38UCSC Ensembl
chr7:345372..424485hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3879114
hg1979114
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611772
Supporting Variants
SamplesHG00129
Known GenesLOC442497
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12657592
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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