A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720498



Internal ID9954794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:107831020..108722824hg38UCSC Ensembl
Outerchr2:108447476..109339280hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38891805
hg19891805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6777286, essv6836534, essv6759325, essv6742417, essv6917799, essv6769882, essv6859599, essv6804691, essv6962111, essv6953128, essv6683134, essv6962110, essv6762055, essv6787600, essv6898885, essv6972994, essv6910424, essv6753781, essv6722334, essv6773778, essv6816994, essv6955355, essv6753782, essv6889308, essv6669540, essv6807647, essv6679531, essv6689601, essv6822709, essv6739130, essv6785384, essv6697244, essv6919840, essv6707578, essv6968344, essv6816993, essv6669541, essv6929466, essv6781252, essv6868993, essv6748052, essv6793680, essv6785383, essv6942210, essv6751797, essv6902864, essv6810586, essv6788598, essv6844185, essv6946842, essv6722335, essv6840330, essv6829330, essv6906461, essv6859600, essv6704171, essv6898884, essv6679530, essv6933691, essv6896097, essv6766802, essv6914281, essv6733724, essv6864397, essv6781253, essv6693171, essv6864396, essv6846998, essv6750879, essv6874985, essv6874987
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM065, SSM038, SSM097, SSM013, SSM009, SSM074, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM003, SSM031, SSM067, SSM001, SSM014, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM020, SSM015, SSM078, SSM016, SSM053, SSM037, SSM076, SSM034, SSM004, SSM099, SSM052, SSM049, SSM056
Known GenesGCC2, LIMS1, RANBP2, RGPD4, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
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)esv2720498
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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