A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674202



Internal ID9940307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75565843..75567777hg38UCSC Ensembl
chr7:75195147..75197081hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6235348, essv5603501, essv6177301, essv6436393, essv6460921, essv6505775, essv6219510, essv6210932, essv5928926, essv5968992, essv5951162, essv6440997, essv6062787, essv6421443, essv5649615, essv6350483, essv5859183
SamplesNA19700, NA19466, NA19350, NA18916, NA20812, NA19235, NA19471, NA18867, NA19908, HG01102, NA18856, NA18912, NA19375, NA19380, NA19900, NA18522, NA19431
Known GenesHIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674202
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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