A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613497



Internal ID6653706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66079000..66102341hg38UCSC Ensembl
Innerchr7:66079150..66102191hg38UCSC Ensembl
Outerchr7:66078850..66102491hg38UCSC Ensembl
chr7:65543987..65567328hg19UCSC Ensembl
Innerchr7:65544137..65567178hg19UCSC Ensembl
Outerchr7:65543837..65567478hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3823342
hg1923342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12816593, essv12816594, essv12816595
SamplesHG02573, NA19209, HG02666
Known GenesASL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613497
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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