A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659564



Internal ID9578983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45530922..45532849hg38UCSC Ensembl
chr2:45758061..45759988hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381928
hg191928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6023962, essv5789566, essv6227467, essv6180434, essv5773117, essv6587020, essv5483005, essv6335956, essv5558168, essv5463561
SamplesNA12748, HG00186, NA19782, HG00321, HG00242, NA20530, NA19704, NA20507, NA11993, NA20758
Known GenesSRBD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659564
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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