A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677938



Internal ID9597357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25287925..25321931hg38UCSC Ensembl
Outerchr1:25287554..25322301hg38UCSC Ensembl
Innerchr1:25614416..25648422hg19UCSC Ensembl
Outerchr1:25614045..25648792hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3834748
hg1934748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv32e199
Supporting Variantsessv6198253, essv5744127, essv6594396, essv5654127, essv6116033, essv6548877, essv6019678, essv6108092, essv6495532, essv6157753, essv5409745, essv5430505, essv6565840, essv5589370, essv5535874, essv5451371, essv5697870, essv6522281, essv6592130, essv5469442, essv6523530, essv5980389, essv5646992, essv5938365, essv5779305, essv6153212, essv6436013, essv6360752, essv5902821, essv5404511, essv5973021, essv6071368, essv6001987, essv5831975, essv6076979, essv5732943, essv5679745, essv5717897, essv5512022, essv6006941, essv5851623, essv6556472
SamplesHG00323, HG00313, HG00344, HG00171, HG00274, HG00310, HG00189, HG00375, HG00368, HG00173, HG00334, HG00335, HG00366, HG00177, HG00319, HG00188, HG00353, HG00342, HG00266, HG00321, HG00339, HG00179, HG00337, HG00315, HG00338, HG00174, HG00343, HG00268, HG00185, HG00176, HG00273, HG00277, HG00329, HG00181, HG00281, HG00285, HG00275, HG00324, HG00336, HG00272, HG00278, HG00327
Known GenesRHD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677938
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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