A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658567



Internal ID9924672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122582251..122600081hg38UCSC Ensembl
Outerchr10:122582094..122600234hg38UCSC Ensembl
Innerchr10:124341767..124359597hg19UCSC Ensembl
Outerchr10:124341610..124359750hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3818141
hg1918141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6254471, essv6108220, essv6383788, essv6310512, essv6112562, essv5527457, essv5552297, essv6411665, essv6379630, essv6552176, essv6527145, essv6480070, essv6496144, essv5638285, essv6097245, essv5511086, essv5758589, essv6528855, essv6236258, essv5926673, essv6582725, essv6528214, essv5605534, essv6388839, essv6255568, essv5757620, essv5563620, essv6263043, essv5566982
SamplesHG00524, NA19359, NA20796, HG00251, NA18949, HG00512, HG00534, HG01136, NA19056, NA18956, HG00475, NA18948, NA18548, HG01073, HG00613, NA19257, HG00704, NA19469, NA19652, NA19390, NA18535, NA19072, HG00734, NA18943, HG00259, NA19711, NA18984, HG01097, HG00554
Known GenesDMBT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658567
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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