A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664469



Internal ID9583888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237756903..237757078hg38UCSC Ensembl
chr2:238665546..238665721hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6568268, essv6235927, essv5923833, essv6239112, essv6320267, essv6285681, essv6105205, essv6287721, essv5838327, essv6587530
SamplesNA18561, NA18526, NA18573, HG00583, NA18973, HG00436, HG00427, HG00693, NA18549, HG00704
Known GenesLRRFIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664469
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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