A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721825



Internal ID10305461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239231697..239232012hg38UCSC Ensembl
Outerchr2:240153393..240153708hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726316, essv6886331, essv6883607, essv6946992, essv6955596, essv6853983, essv6730074, essv6864568, essv6899002, essv6830042, essv6896180, essv6962347, essv6810680, essv6938165, essv6962348, essv6929604
SamplesSSM100, SSM027, SSM024, SSM046, SSM087, SSM002, SSM047, SSM096, SSM026, SSM089, SSM020, SSM076, SSM022, SSM095, SSM099
Known GenesHDAC4
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)esv2721825
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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