A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671244



Internal ID9937349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:41719014..41719777hg38UCSC Ensembl
chr7:41758612..41759375hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5911491, essv5536779, essv5757483
SamplesNA19384, NA19917, NA19257
Known GenesINHBA-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671244
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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