A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743946



Internal ID10324916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1607418..1608060hg38UCSC Ensembl
Outerchr11:1628648..1629290hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755392, essv6856903, essv6897554, essv6737746, essv6924143, essv6927763, essv6823438, essv6804188, essv6958961, essv6752430
SamplesSSM079, SSM087, SSM009, SSM050, SSM057, SSM058, SSM018, SSM026, SSM019, SSM012
Known GenesKRTAP5-3, MOB2
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)esv2743946
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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