A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15657261



Internal ID602043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30019222..30026385hg38UCSC Ensembl
Innerchr17:30019222..30026385hg38UCSC Ensembl
Outerchr17:30018877..30026698hg38UCSC Ensembl
chr17:28346240..28353403hg19UCSC Ensembl
Innerchr17:28346240..28353403hg19UCSC Ensembl
Outerchr17:28345895..28353716hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387164
hg197164
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640333
Supporting Variants
SamplesHG00263
Known GenesEFCAB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15657261
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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