A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718069



Internal ID10301705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6709578..6710520hg38UCSC Ensembl
Outerchr19:6709589..6710531hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883036, essv6756297, essv6747535, essv6784617, essv6692416, essv6674752, essv6773090, essv6843491, essv6858699, essv6716643, essv6758841, essv6913634, essv6902198, essv6750357, essv6846689, essv6877415, essv6745698, essv6820837, essv6766317, essv6971894, essv6776640, essv6905798, essv6779043, essv6741860, essv6788789
SamplesSSM059, SSM036, SSM065, SSM087, SSM013, SSM058, SSM028, SSM092, SSM084, SSM069, SSM094, SSM031, SSM001, SSM066, SSM006, SSM085, SSM068, SSM007, SSM015, SSM078, SSM055, SSM052, SSM056, SSM063, SSM012
Known GenesC3
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)esv2718069
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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