A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678453



Internal ID9944558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71115408..71120760hg38UCSC Ensembl
chr2:71342538..71347890hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385353
hg195353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6275939, essv5695050, essv5473006, essv6017275, essv6189054, essv6027014, essv5867608, essv5409850, essv5715003, essv5948385, essv5877027, essv5986033, essv6204621, essv6059999, essv5568414, essv5766732, essv5726715, essv6370486, essv5747742, essv5798859, essv6403742, essv5813880, essv6224594, essv6530861, essv5459184, essv6341696, essv6358317, essv6420559, essv6361960, essv6551931, essv6092195, essv6196601, essv5553614, essv5616262, essv5983042, essv6097775, essv5547604, essv6539248
SamplesNA19700, NA19703, NA19704, HG01188, HG00151, NA18917, NA19350, NA19379, NA18489, NA18923, NA19457, NA19138, NA19235, NA19385, NA18908, NA19451, NA19347, HG00653, NA19236, HG00436, NA18910, NA19453, NA19469, NA19625, NA19436, NA19375, HG00258, NA19434, NA19444, NA19010, NA19835, NA19467, NA19360, NA19818, NA19398, NA19713, NA19430, NA18487
Known GenesMCEE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678453
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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