A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677489



Internal ID2910576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136534964..136535570hg38UCSC Ensembl
Outerchr9:136534593..136535940hg38UCSC Ensembl
Innerchr9:139429416..139430022hg19UCSC Ensembl
Outerchr9:139429045..139430392hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381348
hg191348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6134287, essv6124127, essv6222096, essv6088350, essv5631505, essv5459993, essv6069526, essv5544791, essv6108608, essv6182681, essv5463534, essv6017473, essv6126648, essv6003021, essv5852452, essv6417351, essv5734504, essv5920602, essv6534736, essv5913883, essv6007508, essv5776464, essv6319187
SamplesNA19625, NA19712, NA19819, NA19920, NA19834, NA19701, NA20322, NA20340, NA19982, NA19900, NA19908, NA19835, NA19700, NA20291, NA19703, NA19713, NA19901, NA19704, NA19707, NA19711, NA20276, NA20332, NA19818
Known GenesNOTCH1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677489
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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