A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745644



Internal ID9979928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24289456..24289763hg38UCSC Ensembl
Outerchr12:24442390..24442697hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862372, essv6851170, essv6924341, essv6891276, essv6812214, essv6857189, essv6688286
SamplesSSM087, SSM097, SSM088, SSM018, SSM035, SSM086, SSM076
Known GenesSOX5
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)esv2745644
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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