A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15648074



Internal ID5649890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19907274..19908881hg38UCSC Ensembl
Innerchr17:19907275..19908880hg38UCSC Ensembl
Outerchr17:19907273..19908882hg38UCSC Ensembl
chr17:19810587..19812194hg19UCSC Ensembl
Innerchr17:19810588..19812193hg19UCSC Ensembl
Outerchr17:19810586..19812195hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381608
hg191608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640185
Supporting Variants
SamplesHG03063
Known GenesAKAP10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15648074
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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