A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738314



Internal ID10321950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:25693182..25693568hg38UCSC Ensembl
Outerchr9:25693180..25693566hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746460, essv6672325, essv6904445, essv6815013, essv6856396, essv6727840, essv6827189, essv6687884, essv6927488, essv6970224, essv6964948, essv6695001, essv6795507, essv6734599, essv6866502, essv6731611, essv6749303, essv6967307, essv6827190, essv6705758, essv6723999, essv6681118, essv6768122, essv6850381
SamplesSSM071, SSM027, SSM045, SSM046, SSM064, SSM087, SSM013, SSM028, SSM047, SSM089, SSM019, SSM035, SSM031, SSM086, SSM033, SSM040, SSM007, SSM080, SSM037, SSM077, SSM055, SSM004, SSM056
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)esv2738314
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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