A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656800



Internal ID9576219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23970927..23985831hg38UCSC Ensembl
Outerchr22:23970506..23986251hg38UCSC Ensembl
Innerchr22:24313116..24328022hg19UCSC Ensembl
Outerchr22:24312695..24328442hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3815746
hg1915748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5406187, essv5449763, essv5874560, essv5872288, essv5718390, essv6226440, essv5671375, essv6597568, essv5499429, essv5838794, essv5737573, essv5478517, essv6214237, essv6334511, essv5828374, essv6021668, essv5604184, essv6141139, essv6263742, essv6510777, essv6453753, essv5439643, essv5957628, essv5720769, essv5936958, essv6250566, essv6529605, essv6136365, essv6563131, essv5461929, essv5985543, essv6520535, essv6102902, essv5476127, essv6053383, essv5768610
SamplesNA18621, NA19066, NA18980, NA18959, NA18988, NA19068, NA18940, NA18567, NA18558, NA18618, NA18949, NA18973, NA18539, NA18605, NA19082, NA19056, NA18976, NA18630, NA19064, NA18548, NA18537, NA19000, NA18626, NA18553, NA19059, NA18570, NA18945, NA18576, NA18608, NA19003, NA18961, NA18952, NA18559, NA19063, NA18562, NA18577
Known GenesDDT, DDTL, GSTT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656800
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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