A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15760181



Internal ID2492017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81048348..81051603hg38UCSC Ensembl
Innerchr17:81048348..81051603hg38UCSC Ensembl
Outerchr17:81048116..81051807hg38UCSC Ensembl
chr17:79022148..79025403hg19UCSC Ensembl
Innerchr17:79022148..79025403hg19UCSC Ensembl
Outerchr17:79021916..79025607hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383256
hg193256
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641391
Supporting Variants
SamplesHG02190
Known GenesBAIAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15760181
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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