A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613724



Internal ID7000620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75585242..75586266hg38UCSC Ensembl
Innerchr7:75585267..75586241hg38UCSC Ensembl
Outerchr7:75585217..75586291hg38UCSC Ensembl
chr7:75214560..75215584hg19UCSC Ensembl
Innerchr7:75214585..75215559hg19UCSC Ensembl
Outerchr7:75214535..75215609hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848029, essv12848034, essv12848028, essv12848033, essv12848032, essv12848035, essv12848030, essv12848038, essv12848037, essv12848036, essv12848031
SamplesHG03558, HG02870, HG03069, HG03082, HG03556, HG02439, HG03382, HG03461, HG03469, HG03473, NA19116
Known GenesHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613724
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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