A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615367



Internal ID6655566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146436711..146442597hg38UCSC Ensembl
chr7:146133803..146139689hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997731
SamplesHG00246
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615367
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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