A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718800



Internal ID9953092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52809134..52855054hg38UCSC Ensembl
Outerchr19:53312387..53358307hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3845921
hg1945921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv529e201
Supporting Variantsessv6888814, essv6807183, essv6782088, essv6747601, essv6832329, essv6814832, essv6828762, essv6812986, essv6950228, essv6721720, essv6917171, essv6810174, essv6744759, essv6933005, essv6746499, essv6692497, essv6692501, essv6925410, essv6839703, essv6839704, essv6769303, essv6863661, essv6954411, essv6843583, essv6843584, essv6917172, essv6950227, essv6814821, essv6820931, essv6928825
SamplesSSM036, SSM008, SSM083, SSM024, SSM075, SSM064, SSM009, SSM074, SSM088, SSM084, SSM018, SSM096, SSM019, SSM044, SSM081, SSM020, SSM007, SSM078, SSM016, SSM053, SSM080, SSM076, SSM055, SSM025
Known GenesZNF28, ZNF468
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)esv2718800
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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