A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670095



Internal ID9936200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:125860970..125867176hg38UCSC Ensembl
Outerchr6:125860599..125867546hg38UCSC Ensembl
Innerchr6:126182116..126188322hg19UCSC Ensembl
Outerchr6:126181745..126188692hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg386948
hg196948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6548744, essv6465536, essv5920408, essv6543577, essv6239935, essv6547660, essv6403203, essv6499893, essv6487686, essv5581599, essv6289091, essv6069460, essv5473163, essv6192110, essv5897018, essv5794778, essv6591261, essv5862526, essv5942251, essv5738151, essv6315192, essv5545705, essv6486862
SamplesNA20543, NA20766, NA20783, NA20514, NA20796, NA20586, NA20795, NA20540, NA20513, NA20759, NA20521, NA20506, NA20519, NA20542, NA20526, NA20799, NA20804, NA20530, NA20792, NA20807, NA20502, NA20585, NA20754
Known GenesNCOA7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670095
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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