A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745536



Internal ID10326506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10588545..10589410hg38UCSC Ensembl
Outerchr12:10741144..10742009hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959224, essv6870701, essv6965741, essv6862339, essv6857155, essv6668201, essv6719597, essv6744008, essv6936099, essv6755519, essv6851132, essv6771720, essv6737871, essv6867118, essv6977130, essv6749665
SamplesSSM008, SSM027, SSM087, SSM050, SSM088, SSM058, SSM090, SSM021, SSM029, SSM026, SSM089, SSM001, SSM086, SSM053, SSM056, SSM030
Known GenesKLRAP1
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)esv2745536
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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