A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677627



Internal ID9597046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51015760..51020066hg38UCSC Ensembl
Outerchr19:51015389..51020436hg38UCSC Ensembl
Innerchr19:51519016..51523322hg19UCSC Ensembl
Outerchr19:51518645..51523692hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg385048
hg195048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6546930, essv5662090, essv6335240, essv5659492, essv6429688, essv5472459, essv5802605, essv5825972, essv6295658, essv6398948, essv6068383, essv6082590, essv6378387, essv5450418, essv5638199, essv5890797, essv6250913, essv6082372, essv6030625, essv6453905, essv5787308
SamplesNA19443, NA19446, NA19448, NA19471, NA19437, NA19461, NA19453, NA19452, NA19469, NA19436, NA19401, NA19440, NA19434, NA19435, NA19311, NA19467, NA19376, NA19438, NA19468, NA19312, NA19431
Known GenesKLK10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677627
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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