A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746299



Internal ID10327269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103899614..103899944hg38UCSC Ensembl
Outerchr12:104293392..104293722hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897700, essv6959361, essv6827773, essv6806429, essv6702517, essv6879545, essv6688347, essv6809432, essv6709552, essv6796095, essv6720751, essv6673247, essv6695612, essv6851288, essv6931903, essv6977297, essv6904959, essv6823686, essv6857295, essv6866265, essv6819773, essv6965867, essv6838671, essv6900689, essv6862465, essv6783617, essv6891338, essv6894704, essv6677881, essv6867244, essv6834939, essv6728392
SamplesSSM100, SSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM013, SSM093, SSM074, SSM088, SSM041, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM044, SSM086, SSM068, SSM082, SSM020, SSM078, SSM080, SSM037, SSM099, SSM098
Known GenesGNN
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)esv2746299
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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