A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15657898



Internal ID5659714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31125069..31135021hg38UCSC Ensembl
Innerchr17:31125081..31135010hg38UCSC Ensembl
Outerchr17:31125058..31135033hg38UCSC Ensembl
chr17:29452087..29462039hg19UCSC Ensembl
Innerchr17:29452099..29462028hg19UCSC Ensembl
Outerchr17:29452076..29462051hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389953
hg199953
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640360
Supporting Variants
SamplesHG03401
Known GenesNF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15657898
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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