A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665995



Internal ID9585414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37177238..37177652hg38UCSC Ensembl
chr7:37216843..37217257hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5980522, essv5526841, essv5793021, essv5493661, essv5901174
SamplesNA18621, NA18530, NA18567, NA18555, HG00628
Known GenesELMO1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665995
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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