A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640600



Internal ID6680687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42151243..42152690hg38UCSC Ensembl
Innerchr17:42151277..42152656hg38UCSC Ensembl
Outerchr17:42151209..42152724hg38UCSC Ensembl
chr17:40303261..40304708hg19UCSC Ensembl
Innerchr17:40303295..40304674hg19UCSC Ensembl
Outerchr17:40303227..40304742hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679056
SamplesHG02571
Known GenesRAB5C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640600
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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