A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997660



Internal ID2999476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146436711..146442597hg38UCSC Ensembl
chr7:146133803..146139689hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615366
Supporting Variants
SamplesHG02508
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997660
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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