A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670228



Internal ID9936333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54905716..54906496hg38UCSC Ensembl
chr1:55371389..55372169hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6467186, essv5642027, essv5597365, essv6584595, essv5417511, essv6094329, essv6537792, essv6488683, essv5399538, essv6306940, essv6358533, essv5874544, essv6415993, essv6503012, essv6060709, essv6063959, essv5503698, essv6298617, essv6364212, essv6032413, essv5711857, essv5494964, essv5774888, essv5557880, essv5853471, essv6361096, essv6442742
SamplesNA19909, NA18861, NA18507, NA11931, NA18917, NA18504, NA20346, NA18967, NA19171, NA19916, NA19138, NA18498, NA19383, NA19172, NA19317, NA18520, NA19200, NA19707, NA19225, NA19436, NA19401, NA19835, HG01342, NA19438, NA19129, NA18511, NA12154
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670228
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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