A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727902



Internal ID10311538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:83300335..83301374hg38UCSC Ensembl
Outerchr4:84221488..84222527hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6708001, essv6670344, essv6962914, essv6889762, essv6956202, essv6899306, essv6860230, essv6813917, essv6817589, essv6676057, essv6848368, essv6810938, essv6973919, essv6754149, essv6906992, essv6854505, essv6865022, essv6881068
SamplesSSM100, SSM027, SSM087, SSM097, SSM088, SSM041, SSM058, SSM029, SSM026, SSM089, SSM094, SSM032, SSM031, SSM014, SSM086, SSM078, SSM077, SSM076
Known GenesHPSE
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)esv2727902
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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