A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615363



Internal ID6655562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146300282..146308625hg38UCSC Ensembl
Innerchr7:146300289..146308618hg38UCSC Ensembl
Outerchr7:146300275..146308632hg38UCSC Ensembl
chr7:145997374..146005717hg19UCSC Ensembl
Innerchr7:145997381..146005710hg19UCSC Ensembl
Outerchr7:145997367..146005724hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388344
hg198344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997638, essv12997641, essv12997640, essv12997639, essv12997642
SamplesHG01935, HG00097, HG01345, NA20886, HG01374
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615363
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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