A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616791



Internal ID7003677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30619410..30625670hg38UCSC Ensembl
Innerchr8:30619423..30625658hg38UCSC Ensembl
Outerchr8:30619398..30625683hg38UCSC Ensembl
chr8:30476927..30483187hg19UCSC Ensembl
Innerchr8:30476940..30483175hg19UCSC Ensembl
Outerchr8:30476915..30483200hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386261
hg196261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13154940, essv13154947, essv13154952, essv13154951, essv13154939, essv13154942, essv13154948, essv13154950, essv13154941, essv13154946, essv13154949, essv13154944, essv13154943, essv13154945
SamplesHG03300, NA19119, NA19198, HG03267, HG03120, HG02820, NA19391, HG02014, HG03027, HG03294, NA20296, NA19440, HG03367, NA19213
Known GenesGTF2E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616791
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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