A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6709568



Internal ID9774624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123974024..124011545hg38UCSC Ensembl
Outerchr12:124458571..124496092hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3837522
hg1937522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746515
Supporting Variants
SamplesSSM041
Known GenesZNF664, ZNF664-FAM101A
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)essv6709568
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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