A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997740



Internal ID4240863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146533412..146651703hg38UCSC Ensembl
chr7:146230504..146348795hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38118292
hg19118292
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615374
Supporting Variants
SamplesHG03814
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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