A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15702480



Internal ID2709027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55096581..55106014hg38UCSC Ensembl
Innerchr17:55096595..55106000hg38UCSC Ensembl
Outerchr17:55096567..55106028hg38UCSC Ensembl
chr17:53173942..53183375hg19UCSC Ensembl
Innerchr17:53173956..53183361hg19UCSC Ensembl
Outerchr17:53173928..53183389hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg389434
hg199434
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640834
Supporting Variants
SamplesHG02391
Known GenesSTXBP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15702480
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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