A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727789



Internal ID10311425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70481079..70481705hg38UCSC Ensembl
Outerchr4:71346796..71347422hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854483, essv6745556, essv6697588, essv6910865, essv6704570, essv6918267, essv6973891
SamplesSSM087, SSM038, SSM029, SSM017, SSM040, SSM015, SSM055
Known GenesMUC7
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)esv2727789
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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