A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656609



Internal ID9576028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4501099..4503946hg38UCSC Ensembl
chr9:4501099..4503946hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5411925, essv6335950, essv5826774, essv6309344, essv6312725, essv5530097, essv5498253, essv5470902, essv6436415, essv6124981, essv5754597, essv6058406, essv6320774, essv6238766, essv6109376, essv6096392, essv6557039, essv5940321, essv5573644, essv5490341, essv5688940
SamplesNA18486, NA20346, NA19098, NA19381, NA19379, NA18519, NA19382, NA19448, NA18916, NA19471, NA19210, NA19982, NA19655, NA19395, NA19401, NA19375, NA19108, NA19380, NA19818, NA19900, NA19312
Known GenesSLC1A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656609
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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