A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615380



Internal ID6655579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146636827..146675042hg38UCSC Ensembl
Innerchr7:146637327..146674542hg38UCSC Ensembl
Outerchr7:146635827..146676042hg38UCSC Ensembl
chr7:146333919..146372134hg19UCSC Ensembl
Innerchr7:146334419..146371634hg19UCSC Ensembl
Outerchr7:146332919..146373134hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3838216
hg1938216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997915, essv12997917, essv12997916
SamplesHG03705, HG03823, HG03814
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615380
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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