A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665377



Internal ID9931482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10576551..10583990hg38UCSC Ensembl
chr1:10636608..10644047hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg387440
hg197440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6246970, essv6439025, essv6051253, essv6266846, essv6424485, essv5972417, essv6184945, essv5706757, essv5594923, essv6575127, essv6306352, essv5984430, essv5429703, essv5520917, essv6473433
SamplesHG00650, NA18545, NA18596, HG00654, NA18627, HG00610, NA18574, NA19088, NA18560, HG00692, HG00531, NA19072, HG00580, NA18631, HG00595
Known GenesPEX14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665377
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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