A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721446



Internal ID10305082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:214864001..214866095hg38UCSC Ensembl
Outerchr2:215728725..215730819hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382095
hg192095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750940, essv6889408, essv6711017, essv6667125, essv6693281, essv6917896, essv6880748, essv6788310, essv6679611, essv6872063, essv6748122, essv6840410, essv6675646, essv6953829, essv6707661, essv6859745, essv6853934, essv6847750, essv6756848, essv6920640, essv6877989, essv6766860, essv6926077, essv6883582, essv6898973, essv6825484, essv6892719, essv6810659, essv6785482, essv6769979, essv6973198, essv6742493, essv6718582, essv6886311, essv6951013, essv6829415, essv6801953, essv6672554, essv6669721, essv6773862, essv6844256, essv6827931, essv6739221, essv6722210, essv6929569, essv6880631, essv6896157, essv6726291, essv6714678
SamplesSSM100, SSM059, SSM046, SSM064, SSM065, SSM087, SSM097, SSM009, SSM073, SSM093, SSM042, SSM088, SSM002, SSM041, SSM057, SSM084, SSM069, SSM029, SSM096, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM044, SSM086, SSM033, SSM066, SSM085, SSM081, SSM020, SSM007, SSM053, SSM005, SSM080, SSM037, SSM076, SSM091, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721446
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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