A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6387093



Internal ID9141893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237910258..237910491hg38UCSC Ensembl
chr2:238818900..238819133hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661727
Supporting Variants
SamplesHG01188
Known GenesRAMP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6387093
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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