A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749634



Internal ID10330604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:45277840..45278167hg38UCSC Ensembl
Outerchr15:45570038..45570365hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713344, essv6685427, essv6846259, essv6897933, essv6755873, essv6776071, essv6788170, essv6974583, essv6735440, essv6831711, essv6905284, essv6895016, essv6809331, essv6803780, essv6721074, essv6820173, essv6749964, essv6945403, essv6809694, essv6949506, essv6689944, essv6706560, essv6681942, essv6728688, essv6882632, essv6695977, essv6936580
SamplesSSM024, SSM075, SSM046, SSM013, SSM009, SSM073, SSM042, SSM023, SSM058, SSM021, SSM069, SSM094, SSM044, SSM033, SSM066, SSM085, SSM081, SSM040, SSM078, SSM005, SSM037, SSM034, SSM004, SSM099, SSM098, SSM049, 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)esv2749634
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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