A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727606



Internal ID10311242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:53353284..53354192hg38UCSC Ensembl
Outerchr4:54219451..54220359hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38909
hg19909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872341, essv6864968, essv6751203, essv6956141, essv6825862, essv6881029, essv6700576, essv6736574, essv6875311, essv6742730, essv6962861, essv6923763, essv6754121, essv6854446
SamplesSSM027, SSM087, SSM050, SSM057, SSM058, SSM092, SSM026, SSM089, SSM094, SSM003, SSM006, SSM053, SSM080, SSM091
Known GenesSCFD2
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)esv2727606
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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