A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5969974



Internal ID8947377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:37507193..37524719hg38UCSC Ensembl
Outerchr1:37507156..37524769hg38UCSC Ensembl
Innerchr1:37972794..37990320hg19UCSC Ensembl
Outerchr1:37972757..37990370hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3817614
hg1917614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666365
Supporting Variants
SamplesNA18567
Known GenesMEAF6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5969974
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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