A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727781



Internal ID9962093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69284148..69431705hg38UCSC Ensembl
Outerchr4:70149866..70297423hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38147558
hg19147558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv845e201
Supporting Variantsessv6934183, essv6667294, essv6730426, essv6670314, essv6679971, essv6973887, essv6848337, essv6791310, essv6756020, essv6923941, essv6817564, essv6899289, essv6739530, essv6718933, essv6751219, essv6860208
SamplesSSM100, SSM008, SSM009, SSM088, SSM057, SSM021, SSM047, SSM029, SSM003, SSM031, SSM044, SSM086, SSM033, SSM078, SSM052, SSM030
Known GenesUGT2B28
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)esv2727781
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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