A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615374



Internal ID6655573
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997739, essv12997740
SamplesHG03705, HG03814
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615374
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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