A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718402



Internal ID10302038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28804808..28805189hg38UCSC Ensembl
Outerchr19:29295715..29296096hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv516e201
Supporting Variantsessv6888789, essv6753302, essv6735817, essv6674796, essv6703542, essv6682551, essv6685924, essv6932955, essv6824658, essv6810139, essv6812955, essv6729327, essv6874387, essv6807146, essv6941430, essv6846730
SamplesSSM075, SSM046, SSM011, SSM079, SSM039, SSM074, SSM057, SSM096, SSM031, SSM033, SSM085, SSM020, SSM076, SSM022, SSM034, SSM049
Known Genes
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)esv2718402
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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