A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666923



Internal ID9933028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13075095..13113701hg38UCSC Ensembl
Outerchr21:13074724..13114071hg38UCSC Ensembl
Innerchr21:14447416..14486022hg19UCSC Ensembl
Outerchr21:14447045..14486392hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3839348
hg1939348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5438401, essv5993330, essv6413188, essv5545866, essv5645540, essv5874404, essv6236329, essv6417059, essv5472411, essv5519459, essv6572129, essv6088891, essv5907354, essv5829339, essv6332373, essv5815795, essv5471156, essv5981438, essv6509448, essv5525414, essv6006330, essv5829088, essv6352687, essv6513581, essv6027270, essv5533109, essv6448693, essv5565332, essv5609740, essv6584758, essv5579310, essv6390443, essv6027606, essv5985080, essv6166311, essv5595106, essv6107007, essv5847983, essv6016852, essv6357204, essv6594943, essv6343100, essv6526830
SamplesNA19466, NA19332, NA19350, NA19359, NA19355, NA19393, NA19446, NA19379, NA19315, NA19313, NA19372, NA19471, NA19317, NA19445, NA19451, NA19462, NA19347, NA19327, NA19455, NA19461, NA19449, NA19452, NA19469, NA19436, NA19375, NA19390, NA19434, NA19473, NA19331, NA19324, NA19311, NA19467, NA19438, NA19472, NA19468, NA19474, NA19430, NA19316, NA19312, NA19463, NA19429, NA19346, NA19431
Known GenesANKRD30BP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666923
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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