A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662973



Internal ID9929078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21651521..22709008hg38UCSC Ensembl
Outerchr17:21651521..22709043hg38UCSC Ensembl
Innerchr17:21550207..22208335hg19UCSC Ensembl
Outerchr17:21550173..22208370hg19UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg381057523
hg19658198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv539e199
Supporting Variantsessv6539462, essv5888113, essv6454965, essv6588826, essv5763675, essv6365964, essv5980383, essv6365490, essv5726140
SamplesHG00663, HG00702, HG00534, HG00705, HG00560, HG00613, HG00285, NA18941, HG01375
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662973
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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