A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669083



Internal ID9935188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130727265..130728266hg38UCSC Ensembl
chr9:133602652..133603653hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5715972, essv5508602, essv5781249, essv5426593, essv6482459, essv5684390, essv6534091, essv6298789, essv6155847, essv5552245, essv6409958, essv6258270, essv6492877, essv5518286
SamplesNA12842, NA20766, NA19777, NA19107, NA19678, NA07347, NA12761, NA19720, NA19719, NA20800, HG00268, NA18566, NA20828, NA20803
Known GenesABL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669083
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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