A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718780



Internal ID10302416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52124979..52161671hg38UCSC Ensembl
Outerchr19:52628232..52664924hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3836693
hg1936693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961060, essv6797158, essv6921414, essv6874697, essv6892115, essv6863654, essv6877471, essv6667232, essv6696739
SamplesSSM071, SSM011, SSM097, SSM088, SSM092, SSM026, SSM017, SSM037, SSM004
Known GenesZNF616, ZNF836
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)esv2718780
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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